A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Authors

  • Jean-Baptiste Rivière BSc,

    1. Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
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  • Dominique J. Verlaan BSc,

    1. Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
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  • Masoud Shekarabi PhD,

    1. Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
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  • Ronald G. Lafrenière PhD,

    1. Emerillon Therapeutics, McGill University, Montreal, Quebec, Canada
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  • Mélanie Bénard BA,

    1. Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
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  • Vazken M. Der Kaloustian MD,

    1. The F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, and Department of Human Genetics, McGill University, Montreal, Quebec, Canada
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  • Zuhayr Shbaklo MD,

    1. American University of Beirut Medical Centre, Dermatology Department, Beirut, Lebanon
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  • Guy A. Rouleau MD, PhD

    Corresponding author
    1. Centre for Research in Neurosciences and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
    • Centre for Research in Neurosciences, Montreal General Hospital and Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, H3G IA4, Canada
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Abstract

Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves. Recently, a novel gene called HSN2 has been found to be the cause of HSAN type II in five families from Newfoundland and Quebec. Screening of this gene in an HSAN type II Lebanese family showed a 1bp deletion mutation found in a homozygous state in all affected individuals. This novel mutation supports the hypothesis that HSN2 is the causative gene for HSAN type II. Ann Neurol 2004;56:572–575

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